Holoprosencephaly
ORPHA:2162Malformation syndromeAutosomal recessive, Multigenic/multifactorial, Not applicable, Oligogenic, X-linked dominantAntenatal, Neonatal
Фенотипы (HPO)93
Очень частый (80–99%)7
HP:0009099Median cleft palate
HP:0000161Median cleft lip
HP:0001360Holoprosencephaly
HP:0001999Abnormal facial shape
HP:0006315Single median maxillary incisor
HP:0012639Abnormal nervous system morphology
HP:0100336Bilateral cleft lip
Частый (30–79%)22
HP:0000252Microcephaly
HP:0000453Choanal atresia
HP:0000457Depressed nasal ridge
HP:0000458Anosmia
HP:0000528Anophthalmia
HP:0000568Microphthalmia
HP:0000601Hypotelorism
HP:0000612Iris coloboma
HP:0000819Diabetes mellitus
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001324Muscle weakness
HP:0001332Dystonia
HP:0001943Hypoglycemia
HP:0002020Gastroesophageal reflux
HP:0004409Hyposmia
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0009804Tooth agenesis
HP:0009914Cyclopia
HP:0100543Cognitive impairment
Периодический (5–29%)64
HP:0000028Cryptorchidism
HP:0000079Abnormality of the urinary system
HP:0000093Proteinuria
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000289Broad philtrum
HP:0000316Hypertelorism
HP:0000400Macrotia
HP:0000437Depressed nasal tip
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000488Retinopathy
HP:0000490Deeply set eye
HP:0000508Ptosis
HP:0000567Chorioretinal coloboma
HP:0000574Thick eyebrow
HP:0000581Blepharophimosis
HP:0000582Upslanted palpebral fissure
HP:0000648Optic atrophy
HP:0000664Synophrys
HP:0000776Congenital diaphragmatic hernia
HP:0000830Anterior hypopituitarism
HP:0000871Panhypopituitarism
HP:0000873Diabetes insipidus
HP:0000929Abnormal skull morphology
HP:0001156Brachydactyly
HP:0001161Hand polydactyly
HP:0001305Dandy-Walker malformation
HP:0001531Failure to thrive in infancy
HP:0001539Omphalocele
HP:0001629Ventricular septal defect
HP:0001636Tetralogy of Fallot
HP:0001641Abnormal pulmonary valve morphology
HP:0001679Abnormal aortic morphology
HP:0001743Abnormality of the spleen
HP:0001883Talipes
HP:0002002Deep philtrum
HP:0002007Frontal bossing
HP:0002019Constipation
HP:0002072Chorea
HP:0002084Encephalocele
HP:0002093Respiratory insufficiency
HP:0002269Abnormality of neuronal migration
HP:0002553Highly arched eyebrow
HP:0002650Scoliosis
HP:0002902Hyponatremia
HP:0003312Abnormal form of the vertebral bodies
HP:0005469Flat occiput
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0008736Hypoplasia of penis
HP:0008872Feeding difficulties in infancy
HP:0009738Abnormality of the antihelix
HP:0009794Branchial anomaly
HP:0009924Aplasia/Hypoplasia involving the nose
HP:0010301Spinal dysraphism
HP:0010302Spinal cord tumor
HP:0010669Hypoplasia of the zygomatic bone
HP:0011100Intestinal atresia
HP:0011675Arrhythmia
HP:0100596Absent nares
HP:0000377Abnormal pinna morphology
HP:0001382Joint hypermobility
Эпидемиология8
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 13.4 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.5 | United States | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 21.6 | Latin America | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 15 | United Kingdom | Value and class |
| Prevalence at birth | 6-9 / 10 000 | 60.6 | Taiwan, Province of China | Value and class |
| Prevalence at birth | >1 / 1000 | 502 | Japan | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-5 / 10 000 | 10.9 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)